HsaEX6055137 @ hg38
Exon Skipping
Gene
ENSG00000114739 | ACVR2B
Description
activin A receptor type 2B [Source:HGNC Symbol;Acc:HGNC:174]
Coordinates
chr3:38477287-38478292:+
Coord C1 exon
chr3:38477287-38477494
Coord A exon
chr3:38477861-38477970
Coord C2 exon
chr3:38478141-38478292
Length
110 bp
Sequences
Splice sites
3' ss Seq
GGAAAATTCTGTGCCTCCAGGCA
3' ss Score
4.69
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GCTCTGGGCGTGGGGAGGCTGAGACACGGGAGTGCATCTACTACAACGCCAACTGGGAGCTGGAGCGCACCAACCAGAGCGGCCTGGAGCGCTGCGAAGGCGAGCAGGACAAGCGGCTGCACTGCTACGCCTCCTGGCGCAACAGCTCTGGCACCATCGAGCTCGTGAAGAAGGGCTGCTGGCTAGATGACTTCAACTGCTACGATAG
Seq A exon
GCAGGAGTGTGTGGCCACTGAGGAGAACCCCCAGGTGTACTTCTGCTGCTGTGAAGGCAACTTCTGCAACGAACGCTTCACTCATTTGCCAGAGGCTGGGGGCCCGGAAG
Seq C2 exon
TCACGTACGAGCCACCCCCGACAGCCCCCACCCTGCTCACGGTGCTGGCCTACTCACTGCTGCCCATCGGGGGCCTTTCCCTCATCGTCCTGCTGGCCTTTTGGATGTACCGGCATCGCAAGCCCCCCTACGGTCATGTGGACATCCATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114739-'8-4,'8-2,9-4=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.132 C2=0.196
Domain overlap (PFAM):
C1:
PF0106418=Activin_recp=PU(65.9=85.7)
A:
PF0106418=Activin_recp=PD(33.0=78.9)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGTGCATCTACTACAACGCC
R:
CGATGGGCAGCAGTGAGTAG
Band lengths:
249-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains